Answer

DSS was originally described as a hypertrophic polyneuropathy with onset in infancy or early childhood, distal sensory loss with ataxia, pes cavus with progression towards the proximal limbs, and Argyll-Robertson pupils. Such patients must be tested for mutations in MPZ, PMP22, EGR2, and PRX. Milder and unrecognized hereditary neuropathies in the parents must be considered and investigated.

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Neil A Busis, MD Chief of Neurology and Director of Neurodiagnostic Laboratory, UPMC Shadyside; Clinical Professor of Neurology and Director of Community Neurology, Department of Neurology, University of Pittsburgh Physicians

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: American Academy of Neurology<br/>Serve(d) as a speaker or a member of a speakers bureau for: American Academy of Neurology<br/>Received income in an amount equal to or greater than $250 from: American Academy of Neurology.